Intoxication-type Inherited Metabolic DiseasesNCT06561503
Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital
An observational study of Intoxication-type Inherited Metabolic Diseases, run by Sohag University at 1 site in Egypt.
Trial summary
Intoxication-type Inherited Metabolic disease (IT-IMD) are a group of rare, chronic diseases. They share the pattern of intoxication by a substance, which accumulates due to a genetically determined enzyme failure. In many IT-IMD, brain toxicity is predominant. Read more about this study
- Who is it for?
- Ages 1 day to 18 years
- Conditions the study is for
- Intoxication-type Inherited Metabolic Diseases
- How many people
- 50 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Aug 2024to 1 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: - • Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia. • Patients and their parents agree to participate in the study
Who may be able to join
- • Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia.
- Patients and their parents agree to participate in the study
Who cannot join
- Patients and their parents refuse to participate in the study.
- Children with incomplete medical records or unavailable clinical data.
- Non diagnosed cases.
Trial locations and contacts
1 site in 1 country.
abdelrahim Abdrabou Sadek, professor contact
Egypt1 site, 1 recruiting
- Recruiting
Sohag university Hospital
Sohag, Sohag
Magdy M Amin, professor
About this study
Intoxication-type Inherited Metabolic disease (IT-IMD) are a group of rare, chronic diseases. They share the pattern of intoxication by a substance, which accumulates due to a genetically determined enzyme failure. In many IT-IMD, brain toxicity is predominant. Treatment mostly encompasses a lifelong natural protein-restricted diet, supplementation of amino acid solutions and specific medication.(1) The diseases are by definition chronic but according to their characteristics they can be subdivided into having or having not acute, crisis-like episodes. Patients with ITIMD such as urea cycle disorders (UCD) or organic acidurias (OA) may be challenged by life-threatening metabolic crises and acute exacerbations (acute IT-IMD). Many acute IT-IMD patients develop neurocognitive and behavioural problems, often despite sufficient treatment adherence. Furthermore, difficulties to adhere to diet and medication, nausea and vomiting are major every-day complaints.(2) Phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism is a non-acute IT-IMD, patients generally have no metabolic crises or short-term disease exacerbations. Accumulating Phe is toxic to the brain and causes severe, irreversible cognitive impairment. Mainstay of treatment in classical PKU is a lifelong protein-restricted diet complemented with amino acid supplementation.(3)With good metabolic control, classical PKU patients usually achieve normal cognitive functioning, but complaints such as attention problems, anxiety, or depression occur frequently.(2) Acute and non-acute IT-IMD patients face considerable burdens of disease and treatment, which may impair health-related quality of life (HrQoL). HrQoL is 'a patient's perception of the impact of disease and treatment on functioning in a variety of dimensions, including physical, psychological, and social domains.(1,4) Research on the subjective burden of IT-IMD remains sparse. . Previous research suggests that pediatric patients' and their parents' everyday life is significantly affected by the considerable disease and treatment burdens of E-IMD.(5) Studies with appropriate sample sizes are needed to make valid statements about health-related quality of life (HrQoL) in children and adolescents with IT-IMD
Read the detailed description
Type of the study:
Prospective observational study.
Place of the study:
Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Inclusion Criteria:
- Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia.
- Patients and their parents agree to participate in the study. Exclusion Criteria:.
- Patients and their parents refuse to participate in the study.
- Children with incomplete medical records or unavailable clinical data.
- Non diagnosed cases.
Study duration:
One year (starting from obtaining approval from the research ethics committee).
Patients:
Our study will include all children diagnosed with IT-IMD at the Metabolic and Genetic Unit of Sohag University
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| cases group | Metabolic Cases |
What is being measured
The primary outcome is the main question the study is designed to answer.
Health-related quality of life (HrQoL) questionnaire
quality of life in patients with Intoxication-type Inherited Metabolic Diseases
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Aug 2024
- Study start1 Aug 2024
- Primary completion1 Aug 2025 (estimated)
- Study completion1 Aug 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Intoxication-type Inherited Metabolic DiseasesStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alaa Mahmoud Aly, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06561503
- Sponsor's protocol ID
- Soh-Med-24-07-16MS
- Status last verified
- Aug 2024
- First submitted
- 12 Aug 2024
- Last updated
- 20 Aug 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kolker S, Muhlhausen C, Scholl-Burgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism. JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1.
PubMed 28247338Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. "Classical organic acidurias": diagnosis and pathogenesis. Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9.
PubMed 27613073Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999 Feb;37(2):126-39. doi: 10.1097/00005650-199902000-00003.
PubMed 10024117van Spronsen FJ, van Wegberg AM, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10.
PubMed 28082082
Study at a glance
From the registry record, last updated by the sponsor on 20 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital
- ClinicalTrials.gov ID
- NCT06561503
- Acronym / sponsor ID
- Soh-Med-24-07-16MS
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 1 Aug 2024 (actual)
- Primary completion
- 1 Aug 2025 (estimated)
- Study completion
- 1 Aug 2025 (estimated)
- First posted
- 20 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Intoxication-type Inherited Metabolic disease (IT-IMD) are a group of rare, chronic diseases. They share the pattern of intoxication by a substance, which accumulates due to a genetically determined enzyme failure. In many IT-IMD, brain toxicity is predominant. Treatment mostly encompasses a lifelong natural protein-restricted diet, supplementation of amino acid solutions and specific medication.(1) The diseases are by definition chronic but according to their characteristics they can be subdivided into having or having not acute, crisis-like episodes. Patients with ITIMD such as urea cycle disorders (UCD) or organic acidurias (OA) may be challenged by life-threatening metabolic crises and acute exacerbations (acute IT-IMD). Many acute IT-IMD patients develop neurocognitive and behavioural problems, often despite sufficient treatment adherence. Furthermore, difficulties to adhere to diet and medication, nausea and vomiting are major every-day complaints.(2) Phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism is a non-acute IT-IMD, patients generally have no metabolic crises or short-term disease exacerbations. Accumulating Phe is toxic to the brain and causes severe, irreversible cognitive impairment. Mainstay of treatment in classical PKU is a lifelong protein-restricted diet complemented with amino acid supplementation.(3)With good metabolic control, classical PKU patients usually achieve normal cognitive functioning, but complaints such as attention problems, anxiety, or depression occur frequently.(2) Acute and non-acute IT-IMD patients face considerable burdens of disease and treatment, which may impair health-related quality of life (HrQoL). HrQoL is 'a patient's perception of the impact of disease and treatment on functioning in a variety of dimensions, including physical, psychological, and social domains.(1,4) Research on the subjective burden of IT-IMD remains sparse. . Previous research suggests that pediatric patients' and their parents' everyday life is significantly affected by the considerable disease and treatment burdens of E-IMD.(5) Studies with appropriate sample sizes are needed to make valid statements about health-related quality of life (HrQoL) in children and adolescents with IT-IMD
Detailed description
Type of the study:
Prospective observational study.
Place of the study:
Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Inclusion Criteria:
- Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia.
- Patients and their parents agree to participate in the study. Exclusion Criteria:.
- Patients and their parents refuse to participate in the study.
- Children with incomplete medical records or unavailable clinical data.
- Non diagnosed cases.
Study duration:
One year (starting from obtaining approval from the research ethics committee).
Patients:
Our study will include all children diagnosed with IT-IMD at the Metabolic and Genetic Unit of Sohag University
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| cases group | – | –Metabolic Cases |
Who may qualify
- Ages
- 1 day to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- - • Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia. • Patients and their parents agree to participate in the study
Key inclusion criteria (2 listed)
- • Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia.
Key exclusion criteria (3 listed)
- Patients and their parents refuse to participate in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Health-related quality of life (HrQoL) questionnaire
Time frame: 1 year
quality of life in patients with Intoxication-type Inherited Metabolic Diseases
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Aug 2024.
- Background: PubMed 28247338Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kolker S, Muhlhausen C, Scholl-Burgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism. JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1.
- Background: PubMed 27613073Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. "Classical organic acidurias": diagnosis and pathogenesis. Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9.
- Background: PubMed 10024117Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999 Feb;37(2):126-39. doi: 10.1097/00005650-199902000-00003.
- Background: PubMed 28082082van Spronsen FJ, van Wegberg AM, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
abdelrahim Abdrabou Sadek, professor contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Intoxication-type Inherited Metabolic Diseases, run by Sohag University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 20 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Alaa mahmoud, resident (01205993466, Alaa.Mahmoud2015@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Health-related quality of life (HrQoL) questionnaire (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06561503, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Aug 2024.